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Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome

Armstrong, A. E.; Weese-Mayer, D. E.; Mian, A.; Maris, J. M.; Batra, V.; Gosiengfiao, Y.; Reichek, J.; Madonna, M. B.; Bush, J. W.; Shore, R. M.; Walterhouse, D. O.

Pediatr Blood Cancer. 2015 May 27; 62(11):2007-10


Neuroblastoma in patients with congenital central hypoventilation syndrome (CCHS) as part of a neurocristopathy syndrome is a rare finding and has only been associated with paired-like homeobox 2b (PHOX2B) non-polyalanine-repeat-expansion mutations. To the best of our knowledge, we report the first case of a child with CCHS and Hirschsprung disease who had a PHOX2B polyalanine-repeat-expansion mutation (PARM) (genotype 20/33) and developed high-risk neuroblastoma. We further describe his treatment including chemotherapy and therapeutic I(131) -metaiodobenzylguanidine. This case highlights the need to consider neuroblastoma in patients with CCHS and the longest PHOX2B PARMs and to individualize treatment based on co-morbidities. Pediatr Blood Cancer (c) 2015 Wiley Periodicals, Inc.

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